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P51797

- CLCN6_HUMAN

UniProt

P51797 - CLCN6_HUMAN

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Protein
Chloride transport protein 6
Gene
CLCN6, KIAA0046
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Chloride transport protein, initially identified as voltage-gated chloride channel. The presence of the conserved gating glutamate residues suggests that is functions as antiporter.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei157 – 1571Chloride By similarity
Sitei200 – 2001Mediates proton transfer from the outer aqueous phase to the interior of the protein; involved in linking H(+) and Cl(-) transport By similarity
Sitei267 – 2671Mediates proton transfer from the protein to the inner aqueous phase By similarity
Binding sitei489 – 4891Chloride; via amide nitrogen By similarity
Binding sitei576 – 5761Chloride By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi630 – 6323ATP By similarity
Nucleotide bindingi849 – 8524ATP By similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. antiporter activity Source: UniProtKB-KW
  3. voltage-gated chloride channel activity Source: UniProtKB

GO - Biological processi

  1. cell volume homeostasis Source: UniProtKB
  2. chloride transport Source: UniProtKB
  3. ion transmembrane transport Source: Reactome
  4. regulation of anion transport Source: GOC
  5. response to mechanical stimulus Source: Ensembl
  6. signal transduction Source: UniProtKB
  7. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Antiport, Ion transport, Transport

Keywords - Ligandi

ATP-binding, Chloride, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_160189. Stimuli-sensing channels.

Names & Taxonomyi

Protein namesi
Recommended name:
Chloride transport protein 6
Alternative name(s):
Chloride channel protein 6
Short name:
ClC-6
Gene namesi
Name:CLCN6
Synonyms:KIAA0046
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:2024. CLCN6.

Subcellular locationi

Endosome membrane; Multi-pass membrane protein
Note: Detected in detergent-resistant lipid rafts.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 8080Cytoplasmic By similarity
Add
BLAST
Transmembranei81 – 11333Helical; By similarity
Add
BLAST
Transmembranei128 – 15023Helical; By similarity
Add
BLAST
Intramembranei159 – 1668Helical; By similarity
Transmembranei176 – 19419Helical; By similarity
Add
BLAST
Transmembranei200 – 21718Helical; By similarity
Add
BLAST
Intramembranei241 – 25313Helical; By similarity
Add
BLAST
Intramembranei257 – 2659Helical; By similarity
Transmembranei277 – 29418Helical; By similarity
Add
BLAST
Transmembranei335 – 36430Helical; By similarity
Add
BLAST
Transmembranei371 – 39222Helical; By similarity
Add
BLAST
Transmembranei462 – 48120Helical; By similarity
Add
BLAST
Transmembranei487 – 51125Helical; By similarity
Add
BLAST
Intramembranei519 – 53315Helical; By similarity
Add
BLAST
Intramembranei534 – 5363Note=Loop between two helices; By similarity
Intramembranei537 – 54812Helical; By similarity
Add
BLAST
Intramembranei549 – 5524Note=Loop between two helices; By similarity
Transmembranei553 – 57119Helical; By similarity
Add
BLAST
Topological domaini572 – 869298Cytoplasmic By similarity
Add
BLAST

GO - Cellular componenti

  1. endosome membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB
  3. lysosomal membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endosome, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi410 – 4101N → A: Abolishes N-glycosylation; when associated with A-422 and A-432. 1 Publication
Mutagenesisi422 – 4221N → A: Abolishes N-glycosylation; when associated with A-410 and A-432. 1 Publication
Mutagenesisi432 – 4321N → A: Abolishes N-glycosylation; when associated with A-410 and A-422. 1 Publication

Organism-specific databases

PharmGKBiPA26551.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 869869Chloride transport protein 6
PRO_0000094449Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi410 – 4101N-linked (GlcNAc...)
Glycosylationi422 – 4221N-linked (GlcNAc...)
Glycosylationi432 – 4321N-linked (GlcNAc...)

Post-translational modificationi

N-glycosylated on several asparagine residues.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiP51797.
PaxDbiP51797.
PRIDEiP51797.

PTM databases

PhosphoSiteiP51797.

Expressioni

Tissue specificityi

Testis, ovary, small intestine, brain and skeletal muscle. Low level expression in aortic and coronary vascular smooth muscle cells, and aortic endothelial cells. Isoform 3 is only detected in kidney.3 Publications

Gene expression databases

ArrayExpressiP51797.
BgeeiP51797.
GenevestigatoriP51797.

Organism-specific databases

HPAiHPA032097.

Interactioni

Protein-protein interaction databases

BioGridi107599. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliP51797.
SMRiP51797. Positions 87-639, 810-855.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini605 – 66258CBS 1
Add
BLAST
Domaini807 – 86862CBS 2
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi156 – 1605Selectivity filter part_1 By similarity
Motifi198 – 2025Selectivity filter part_2 By similarity
Motifi487 – 4915Selectivity filter part_3 By similarity

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi4 – 1815Cys-rich
Add
BLAST

Sequence similaritiesi

Contains 2 CBS domains.

Keywords - Domaini

CBS domain, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0038.
HOVERGENiHBG050985.
KOiK05015.
OMAiSLCCCCR.
OrthoDBiEOG7D2FD0.
PhylomeDBiP51797.
TreeFamiTF313867.

Family and domain databases

Gene3Di1.10.3080.10. 2 hits.
InterProiIPR000644. CBS_dom.
IPR014743. Cl-channel_core.
IPR001807. Cl-channel_volt-gated.
IPR002248. Cl_channel-6.
[Graphical view]
PfamiPF00571. CBS. 1 hit.
PF00654. Voltage_CLC. 1 hit.
[Graphical view]
PRINTSiPR00762. CLCHANNEL.
PR01117. CLCHANNEL6.
SMARTiSM00116. CBS. 2 hits.
[Graphical view]
SUPFAMiSSF81340. SSF81340. 2 hits.
PROSITEiPS51371. CBS. 2 hits.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P51797-1) [UniParc]FASTAAdd to Basket

Also known as: A, Clc-6a

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MAGCRGSLCC CCRWCCCCGE RETRTPEELT ILGETQEEED EILPRKDYES    50
LDYDRCINDP YLEVLETMDN KKGRRYEAVK WMVVFAIGVC TGLVGLFVDF 100
FVRLFTQLKF GVVQTSVEEC SQKGCLALSL LELLGFNLTF VFLASLLVLI 150
EPVAAGSGIP EVKCYLNGVK VPGIVRLRTL LCKVLGVLFS VAGGLFVEKE 200
GPMIHSGSVV GAGLPQFQSI SLRKIQFNFP YFRSDRDKRD FVSAGAAAGV 250
AAAFGAPIGG TLFSLEEGSS FWNQGLTWKV LFCSMSATFT LNFFRSGIQF 300
GSWGSFQLPG LLNFGEFKCS DSDKKCHLWT AMDLGFFVVM GVIGGLLGAT 350
FNCLNKRLAK YRMRNVHPKP KLVRVLESLL VSLVTTVVVF VASMVLGECR 400
QMSSSSQIGN DSFQLQVTED VNSSIKTFFC PNDTYNDMAT LFFNPQESAI 450
LQLFHQDGTF SPVTLALFFV LYFLLACWTY GISVPSGLFV PSLLCGAAFG 500
RLVANVLKSY IGLGHIYSGT FALIGAAAFL GGVVRMTISL TVILIESTNE 550
ITYGLPIMVT LMVAKWTGDF FNKGIYDIHV GLRGVPLLEW ETEVEMDKLR 600
ASDIMEPNLT YVYPHTRIQS LVSILRTTVH HAFPVVTENR GNEKEFMKGN 650
QLISNNIKFK KSSILTRAGE QRKRSQSMKS YPSSELRNMC DEHIASEEPA 700
EKEDLLQQML ERRYTPYPNL YPDQSPSEDW TMEERFRPLT FHGLILRSQL 750
VTLLVRGVCY SESQSSASQP RLSYAEMAED YPRYPDIHDL DLTLLNPRMI 800
VDVTPYMNPS PFTVSPNTHV SQVFNLFRTM GLRHLPVVNA VGEIVGIITR 850
HNLTYEFLQA RLRQHYQTI 869
Length:869
Mass (Da):97,289
Last modified:November 2, 2010 - v2
Checksum:iD625F0C2189EB6F7
GO
Isoform 2 (identifier: P51797-2) [UniParc]FASTAAdd to Basket

Also known as: B, ClC-6b, D2-A1

The sequence of this isoform differs from the canonical sequence as follows:
     237-320: DKRDFVSAGA...LLNFGEFKCS → YGKRQERLCI...APWIAELWRV
     321-869: Missing.

Show »
Length:320
Mass (Da):36,006
Checksum:i68604EBB1B15E8CA
GO
Isoform 3 (identifier: P51797-3) [UniParc]FASTAAdd to Basket

Also known as: C, ClC-6c, D1-A1

The sequence of this isoform differs from the canonical sequence as follows:
     319-353: CSDSDKKCHLWTAMDLGFFVVMGVIGGLLGATFNC → SLREPPCVSGNHRGGVCGLDGVRRMPTDVLFESNR
     354-869: Missing.

Show »
Length:353
Mass (Da):38,814
Checksum:i078D3E8A2C013E94
GO
Isoform 4 (identifier: P51797-4) [UniParc]FASTAAdd to Basket

Also known as: D, ClC-6d, D1-A2

The sequence of this isoform differs from the canonical sequence as follows:
     237-308: DKRDFVSAGA...QFGSWGSFQL → SGCWSCCSFR...APWIAELWRV
     309-869: Missing.

Show »
Length:308
Mass (Da):34,515
Checksum:i60C3293CAC95D6BE
GO
Isoform 5 (identifier: P51797-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     844-869: IVGIITRHNLTYEFLQARLRQHYQTI → VSEAPALPPP...LHLRRDLRIR

Note: No experimental confirmation available.

Show »
Length:953
Mass (Da):106,376
Checksum:i5503065172532131
GO
Isoform 6 (identifier: P51797-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     50-71: Missing.

Note: No experimental confirmation available.

Show »
Length:847
Mass (Da):94,660
Checksum:i00E66C8453C4B6F6
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti198 – 1981E → G.7 Publications
Corresponds to variant rs198400 [ dbSNP | Ensembl ].
VAR_023051

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei50 – 7122Missing in isoform 6.
VSP_047169Add
BLAST
Alternative sequencei237 – 32084DKRDF…EFKCS → YGKRQERLCISRSGCWSCCS FRGANRGYLVQSRGGFVLLE PRAHVESALLFHVCHLHPQL LPFWDSVWKLGFLPAPWIAE LWRV in isoform 2.
VSP_001043Add
BLAST
Alternative sequencei237 – 30872DKRDF…GSFQL → SGCWSCCSFRGANRGYLVQS RGGFVLLEPRAHVESALLFH VCHLHPQLLPFWDSVWKLGF LPAPWIAELWRV in isoform 4.
VSP_001047Add
BLAST
Alternative sequencei309 – 869561Missing in isoform 4.
VSP_001048Add
BLAST
Alternative sequencei319 – 35335CSDSD…ATFNC → SLREPPCVSGNHRGGVCGLD GVRRMPTDVLFESNR in isoform 3.
VSP_001045Add
BLAST
Alternative sequencei321 – 869549Missing in isoform 2.
VSP_001044Add
BLAST
Alternative sequencei354 – 869516Missing in isoform 3.
VSP_001046Add
BLAST
Alternative sequencei844 – 86926IVGII…HYQTI → VSEAPALPPPLREDPLARCC LCTQASHQKRRHPTRRGECG PTLALNPARLPCTRDPFPCL PADGTSVPLAVLSSQSRAST RLCLPPEMLLFTPYHWCSLV LHLRRDLRIR in isoform 5.
VSP_017188Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti19 – 191G → S in BAG57898. 1 Publication
Sequence conflicti92 – 921G → D in BAG57898. 1 Publication
Sequence conflicti442 – 4421F → S in BAG57898. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X83378 mRNA. Translation: CAA58292.1.
X96391 mRNA. Translation: CAA65255.1.
X99472 Genomic DNA. Translation: CAA67835.1.
X99473 mRNA. Translation: CAA67836.1.
X99474 mRNA. Translation: CAA67837.1.
X99475 mRNA. Translation: CAA67838.1.
AF009257
, AF009247, AF009248, AF009249, AF009250, AF009251, AF009252, AF009253, AF009254, AF009255, AF009256 Genomic DNA. Translation: AAB69287.1.
D28475 mRNA. Translation: BAA05836.4.
AK289999 mRNA. Translation: BAF82688.1.
AK294764 mRNA. Translation: BAG57898.1.
AL953897, AL021155 Genomic DNA. Translation: CAI15891.1.
AL953897, AL021155 Genomic DNA. Translation: CAI15892.1.
AL953897, AL021155 Genomic DNA. Translation: CAI15893.1.
AL953897, AL021155 Genomic DNA. Translation: CAI15894.1.
AL953897, AL021155 Genomic DNA. Translation: CAI15895.1.
AL021155, AL953897 Genomic DNA. Translation: CAI23402.1.
AL021155, AL953897 Genomic DNA. Translation: CAI23403.1.
AL021155, AL953897 Genomic DNA. Translation: CAI23404.1.
AL021155, AL953897 Genomic DNA. Translation: CAI23405.1.
AL021155, AL953897 Genomic DNA. Translation: CAI23406.1.
CH471130 Genomic DNA. Translation: EAW71715.1.
BC117420 mRNA. Translation: AAI17421.1.
BC117424 mRNA. Translation: AAI17425.1.
CCDSiCCDS138.1. [P51797-1]
CCDS57972.1. [P51797-6]
PIRiS68428.
RefSeqiNP_001243888.1. NM_001256959.1.
NP_001277.1. NM_001286.3.
UniGeneiHs.193043.

Genome annotation databases

EnsembliENST00000312413; ENSP00000308367; ENSG00000011021. [P51797-3]
ENST00000346436; ENSP00000234488; ENSG00000011021. [P51797-1]
ENST00000376487; ENSP00000365670; ENSG00000011021. [P51797-6]
ENST00000376496; ENSP00000365679; ENSG00000011021. [P51797-5]
GeneIDi1185.
KEGGihsa:1185.
UCSCiuc001ate.5. human. [P51797-1]
uc009vnf.2. human. [P51797-2]
uc009vng.2. human. [P51797-4]
uc009vnh.2. human. [P51797-3]

Polymorphism databases

DMDMi311033364.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X83378 mRNA. Translation: CAA58292.1 .
X96391 mRNA. Translation: CAA65255.1 .
X99472 Genomic DNA. Translation: CAA67835.1 .
X99473 mRNA. Translation: CAA67836.1 .
X99474 mRNA. Translation: CAA67837.1 .
X99475 mRNA. Translation: CAA67838.1 .
AF009257
, AF009247 , AF009248 , AF009249 , AF009250 , AF009251 , AF009252 , AF009253 , AF009254 , AF009255 , AF009256 Genomic DNA. Translation: AAB69287.1 .
D28475 mRNA. Translation: BAA05836.4 .
AK289999 mRNA. Translation: BAF82688.1 .
AK294764 mRNA. Translation: BAG57898.1 .
AL953897 , AL021155 Genomic DNA. Translation: CAI15891.1 .
AL953897 , AL021155 Genomic DNA. Translation: CAI15892.1 .
AL953897 , AL021155 Genomic DNA. Translation: CAI15893.1 .
AL953897 , AL021155 Genomic DNA. Translation: CAI15894.1 .
AL953897 , AL021155 Genomic DNA. Translation: CAI15895.1 .
AL021155 , AL953897 Genomic DNA. Translation: CAI23402.1 .
AL021155 , AL953897 Genomic DNA. Translation: CAI23403.1 .
AL021155 , AL953897 Genomic DNA. Translation: CAI23404.1 .
AL021155 , AL953897 Genomic DNA. Translation: CAI23405.1 .
AL021155 , AL953897 Genomic DNA. Translation: CAI23406.1 .
CH471130 Genomic DNA. Translation: EAW71715.1 .
BC117420 mRNA. Translation: AAI17421.1 .
BC117424 mRNA. Translation: AAI17425.1 .
CCDSi CCDS138.1. [P51797-1 ]
CCDS57972.1. [P51797-6 ]
PIRi S68428.
RefSeqi NP_001243888.1. NM_001256959.1.
NP_001277.1. NM_001286.3.
UniGenei Hs.193043.

3D structure databases

ProteinModelPortali P51797.
SMRi P51797. Positions 87-639, 810-855.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107599. 1 interaction.

Chemistry

GuidetoPHARMACOLOGYi 705.

PTM databases

PhosphoSitei P51797.

Polymorphism databases

DMDMi 311033364.

Proteomic databases

MaxQBi P51797.
PaxDbi P51797.
PRIDEi P51797.

Protocols and materials databases

DNASUi 1185.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000312413 ; ENSP00000308367 ; ENSG00000011021 . [P51797-3 ]
ENST00000346436 ; ENSP00000234488 ; ENSG00000011021 . [P51797-1 ]
ENST00000376487 ; ENSP00000365670 ; ENSG00000011021 . [P51797-6 ]
ENST00000376496 ; ENSP00000365679 ; ENSG00000011021 . [P51797-5 ]
GeneIDi 1185.
KEGGi hsa:1185.
UCSCi uc001ate.5. human. [P51797-1 ]
uc009vnf.2. human. [P51797-2 ]
uc009vng.2. human. [P51797-4 ]
uc009vnh.2. human. [P51797-3 ]

Organism-specific databases

CTDi 1185.
GeneCardsi GC01P011866.
HGNCi HGNC:2024. CLCN6.
HPAi HPA032097.
MIMi 602726. gene.
neXtProti NX_P51797.
PharmGKBi PA26551.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0038.
HOVERGENi HBG050985.
KOi K05015.
OMAi SLCCCCR.
OrthoDBi EOG7D2FD0.
PhylomeDBi P51797.
TreeFami TF313867.

Enzyme and pathway databases

Reactomei REACT_160189. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSi CLCN6. human.
GeneWikii CLCN6.
GenomeRNAii 1185.
NextBioi 35513050.
PROi P51797.
SOURCEi Search...

Gene expression databases

ArrayExpressi P51797.
Bgeei P51797.
Genevestigatori P51797.

Family and domain databases

Gene3Di 1.10.3080.10. 2 hits.
InterProi IPR000644. CBS_dom.
IPR014743. Cl-channel_core.
IPR001807. Cl-channel_volt-gated.
IPR002248. Cl_channel-6.
[Graphical view ]
Pfami PF00571. CBS. 1 hit.
PF00654. Voltage_CLC. 1 hit.
[Graphical view ]
PRINTSi PR00762. CLCHANNEL.
PR01117. CLCHANNEL6.
SMARTi SM00116. CBS. 2 hits.
[Graphical view ]
SUPFAMi SSF81340. SSF81340. 2 hits.
PROSITEi PS51371. CBS. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family."
    Brandt S., Jentsch T.J.
    FEBS Lett. 377:15-20(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT GLY-198.
    Tissue: Brain.
  2. "Alternative splicing of ClC-6 (a member of the ClC chloride-channel family) transcripts generates three truncated isoforms one of which, ClC-6c, is kidney-specific."
    Eggermont J., Buyse G., Voets T., Tytgat J., De Smedt H., Droogmans G., Nilius B.
    Biochem. J. 325:269-276(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 2; 3 AND 4), NUCLEOTIDE SEQUENCE [MRNA] OF 1-409 (ISOFORM 1), TISSUE SPECIFICITY, VARIANT GLY-198.
    Tissue: Chronic myeloid leukemia cell.
  3. "Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes."
    Kornak U., Boesl M.R., Kubisch C.
    Biochim. Biophys. Acta 1447:100-106(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT GLY-198.
  4. "Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1."
    Nomura N., Nagase T., Miyajima N., Sazuka T., Tanaka A., Sato S., Seki N., Kawarabayasi Y., Ishikawa K., Tabata S.
    DNA Res. 1:223-229(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLY-198.
    Tissue: Bone marrow.
  5. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 6), VARIANT GLY-198.
    Tissue: Brain and Hippocampus.
  7. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLY-198.
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLY-198.
    Tissue: Brain.
  10. "Expression of CLCN voltage-gated chloride channel genes in human blood vessels."
    Lamb F.S., Clayton G.H., Liu B.-X., Smith R.L., Barna T.J., Schutte B.C.
    J. Mol. Cell. Cardiol. 31:657-666(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
    Tissue: Aortic endothelium and Vascular smooth muscle.
  11. "Human ClC-6 is a late endosomal glycoprotein that associates with detergent-resistant lipid domains."
    Ignoul S., Simaels J., Hermans D., Annaert W., Eggermont J.
    PLoS ONE 2:E474-E474(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION, MUTAGENESIS OF ASN-410; ASN-422 AND ASN-432.

Entry informationi

Entry nameiCLCN6_HUMAN
AccessioniPrimary (citable) accession number: P51797
Secondary accession number(s): A8K1T4
, B4DGT7, F8W9R3, O60818, O60819, O60820, O60821, P78520, P78521, Q17R81, Q5SNW2, Q5SNW3, Q5SNX1, Q5SNX2, Q5SNX3, Q99427, Q99428, Q99429
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 2, 2010
Last modified: September 3, 2014
This is version 136 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters By similarity.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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